Blood Platelet Disease

Categories: Blood diseases
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Aliases & Classifications for Blood Platelet Disease

MalaCards integrated aliases for Blood Platelet Disease:

Name: Blood Platelet Disease 11 14 71
Platelet Disorder 11 75 53 5
Blood Platelet Disorders 75 43 71
Platelet Dysfunction 53 71
Thrombocytopathy 11 75
Qualitative Platelet Deficiency 71
Platelet Disorders 41


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Disease Ontology 11 DOID:2218
MeSH 43 D001791
NCIt 49 C131634
SNOMED-CT 68 22716005
UMLS 71 C0005818 C0235604 C0679429 more

Summaries for Blood Platelet Disease

MedlinePlus: 41 Platelets, also known as thrombocytes, are blood cells. They form in your bone marrow, a sponge-like tissue in your bones. Platelets play a major role in blood clotting. Normally, when one of your blood vessels is injured, you start to bleed. Your platelets will clot (clump together) to plug the hole in the blood vessel and stop the bleeding. You can have different problems with your platelets: If your blood has a low number of platelets, it is called thrombocytopenia. This can put you at risk for mild to serious bleeding. The bleeding could be external or internal. There can be various causes. If the problem is mild, you may not need treatment. For more serious cases, you may need medicines or blood or platelet transfusions. If your blood has too many platelets, you may have a higher risk of blood clots. When the cause is unknown, this is called thrombocythemia. It is rare. You may not need treatment if there are no signs or symptoms. In other cases, people who have it may need treatment with medicines or procedures. If another disease or condition is causing the high platelet count, it is thrombocytosis. The treatment and outlook for thrombocytosis depends on what is causing it. Another possible problem is that your platelets do not work as they should. For example, in von Willebrand Disease, your platelets cannot stick together or cannot attach to blood vessel walls. This can cause excessive bleeding. There are different types of in von Willebrand Disease; treatment depends on which type you have. NIH: National Heart, Lung, and Blood Institute

MalaCards based summary: Blood Platelet Disease, also known as platelet disorder, is related to platelet disorder, familial, with associated myeloid malignancy and bernard-soulier syndrome, and has symptoms including angina pectoris, chest pain and edema. An important gene associated with Blood Platelet Disease is RUNX1 (RUNX Family Transcription Factor 1), and among its related pathways/superpathways are Disease and Response to elevated platelet cytosolic Ca2+. The drugs Ticagrelor and Tramadol have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, lung and bone, and related phenotypes are homeostasis/metabolism and cardiovascular system

Disease Ontology: 11 A blood coagulation disease that is characterized by an abnormal increase or decrease in platelets or platelet dysfunction.

Wikipedia: 75 Platelets, also called thrombocytes (from Greek θρόμβος, "clot" and κύτος, "cell"), are a component of... more...

Related Diseases for Blood Platelet Disease

Diseases related to Blood Platelet Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 496)
# Related Disease Score Top Affiliating Genes
1 platelet disorder, familial, with associated myeloid malignancy 33.3 RUNX1 ANKRD26
2 bernard-soulier syndrome 33.1 VWF THPO SELP MYH9 ITGA2B GP9
3 factor v deficiency 32.7 VWF SERPINC1 F8 F3 F10
4 qualitative platelet defect 32.7 VWF THPO SELP ITGA2B GP1BA F3
5 pseudo-von willebrand disease 32.5 VWF GP9 GP1BB GP1BA F8 ANKRD26
6 myh-9 related disease 32.5 MYH9 GP9 GP1BB GP1BA ANKRD26
7 gray platelet syndrome 32.4 VWF SELP ITGA2B GP9 GP5 CD36
8 bleeding disorder, platelet-type, 11 32.4 VWF SELP ITGA2B GP1BA
9 thrombocytosis 32.4 VWF U2AF1 THPO SERPINC1 SELP PF4
10 thrombocytopenia 32.4 VWF U2AF1 THPO SERPINC1 SELP RUNX1
11 quebec platelet disorder 32.4 SELP MMRN1 F10
12 myeloproliferative neoplasm 31.2 VWF U2AF1 THPO SELP RUNX1 PF4
13 factor viii deficiency 31.1 VWF SERPINC1 F8 F3 F10
14 essential thrombocythemia 31.0 VWF U2AF1 THPO SELP PF4 ITGA2B
15 thrombocytopenia due to platelet alloimmunization 31.0 VWF U2AF1 THPO SELP PF4 ITGA2B
16 thrombasthenia 30.9 SELP ITGA2B GP9 GP1BA F3 CD36
17 vascular disease 30.9 VWF SERPINC1 SELP MMRN1 GP1BA F8
18 von willebrand's disease 30.9 VWF SERPINC1 SELP ITGA2B GP9 GP1BB
19 glanzmann thrombasthenia 1 30.9 VWF SELP PF4 MYH9 ITGA2B GP9
20 acquired von willebrand syndrome 30.8 VWF U2AF1 GP1BA F8 F3
21 von willebrand disease, type 1 30.8 VWF GP1BA F8 F3
22 thrombocytopenia-absent radius syndrome 30.8 THPO GP1BB ANKRD26
23 polycythemia vera 30.8 VWF U2AF1 THPO SERPINC1 SELP PF4
25 thrombotic thrombocytopenic purpura 30.8 VWF SERPINC1 SELP GP1BA F8 F3
26 von willebrand disease, type 2 30.8 VWF GP1BA F8
27 deficiency anemia 30.7 VWF U2AF1 THPO SERPINC1 GP1BA F3
28 thrombophilia due to thrombin defect 30.7 VWF SERPINC1 SELP PF4 F8 F3
29 factor xiii deficiency 30.7 VWF SERPINC1 F8 F3
30 thrombocytopenic purpura, autoimmune 30.7 THPO SELP PF4 ITGA2B GP1BA F8
31 hemorrhagic disease 30.7 VWF THPO SERPINC1 PF4 ITGA2B GP1BA
32 angiodysplasia 30.7 VWF F8 F3
33 diabetes mellitus 30.6 VWF SERPINC1 SELP PF4 ITGA2B GP1BA
34 compartment syndrome 30.6 SERPINC1 F8 F3
35 vitamin k deficiency bleeding 30.6 SERPINC1 F8 F3
36 factor x deficiency 30.6 VWF SERPINC1 F8 F3 F10
37 afibrinogenemia, congenital 30.6 VWF SERPINC1 ITGA2B F8 F3 F10
38 sickle cell anemia 30.6 VWF SERPINC1 SELP F3 CD36
39 factor vii deficiency 30.6 SERPINC1 F8 F3 F10
40 antithrombin iii deficiency 30.6 SERPINC1 PF4 F3 F10
41 acute megakaryocytic leukemia 30.6 U2AF1 THPO RUNX1 PF4 ITGA2B GP1BA
42 hemophilia b 30.6 VWF SERPINC1 PF4 GP9 GP5 GP1BB
43 thrombophilia 30.6 VWF SERPINC1 SELP PF4 F8 F3
44 factor xi deficiency 30.6 VWF SERPINC1 F8 F3 F10
45 endocarditis 30.6 SERPINC1 PF4 GP1BA
46 hemophilia a 30.6 VWF F8 F3 F10
47 protein s deficiency 30.6 SERPINC1 F3 F10
48 nonbacterial thrombotic endocarditis 30.6 VWF SERPINC1 F3
49 heparin-induced thrombocytopenia 30.5 PF4 ITGA2B F3
50 pulmonary embolism 30.5 VWF SERPINC1 GP1BA F8 F3 F10

Graphical network of the top 20 diseases related to Blood Platelet Disease:

Diseases related to Blood Platelet Disease

Symptoms & Phenotypes for Blood Platelet Disease

UMLS symptoms related to Blood Platelet Disease:

angina pectoris; chest pain; edema

MGI Mouse Phenotypes related to Blood Platelet Disease:

# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.21 ANKRD26 CD36 F10 F2R F3 F8
2 cardiovascular system MP:0005385 9.93 ANKRD26 CD36 F10 F2R F3 ITGA2B
3 immune system MP:0005387 9.8 CD36 F2R F3 F8 GP9 ITGA2B
4 hematopoietic system MP:0005397 9.55 CD36 F2R F3 F8 GP1BA GP1BB

Drugs & Therapeutics for Blood Platelet Disease

Drugs for Blood Platelet Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 105)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Ticagrelor Approved Phase 4 274693-27-5 9871419
Tramadol Approved, Investigational Phase 4 27203-92-5 33741 5523
Acetylsalicylic acid Approved, Vet_approved Phase 4 50-78-2 2244
Clopidogrel Approved Phase 4 120202-66-6, 113665-84-2 60606
Arginine Approved, Investigational, Nutraceutical Phase 4 74-79-3 6322
6 Hemostatics Phase 4
7 Arginine Vasopressin Phase 4
8 Vasopressins Phase 4
9 Deamino Arginine Vasopressin Phase 4
10 Factor VIII Phase 4
11 Coagulants Phase 4
12 Analgesics, Opioid Phase 4
13 Narcotics Phase 4
14 Platelet Aggregation Inhibitors Phase 4
15 Analgesics Phase 4
16 Antirheumatic Agents Phase 4
17 Neurotransmitter Agents Phase 4
18 Antipyretics Phase 4
19 Purinergic P2Y Receptor Antagonists Phase 4
20 Cyclooxygenase Inhibitors Phase 4
21 Anti-Inflammatory Agents, Non-Steroidal Phase 4
22 Analgesics, Non-Narcotic Phase 4
23 Anti-Inflammatory Agents Phase 4
Empagliflozin Approved Phase 2, Phase 3 864070-44-0 73151030 11949646
Dapagliflozin Approved Phase 2, Phase 3 461432-26-8 9887712
Acetylcysteine Approved, Investigational Phase 2, Phase 3 616-91-1 581 12035
Iron Approved Phase 2, Phase 3 7439-89-6 29936
Metformin Approved Phase 2, Phase 3 1115-70-4, 657-24-9 4091
Deferiprone Approved Phase 2, Phase 3 30652-11-0 2972
Nitric Oxide Approved Phase 2, Phase 3 10102-43-9 145068
Cyproheptadine Approved Phase 3 129-03-3 2913
Histamine Approved, Investigational Phase 3 51-45-6 774
33 Hormones Phase 2, Phase 3
34 Sodium-Glucose Transporter 2 Inhibitors Phase 2, Phase 3
35 Hypoglycemic Agents Phase 2, Phase 3
36 Antiviral Agents Phase 2, Phase 3
37 Anti-Infective Agents Phase 2, Phase 3
38 Iron Chelating Agents Phase 2, Phase 3
Sitagliptin Phosphate Phase 2, Phase 3 654671-77-9
40 Hormone Antagonists Phase 2, Phase 3
41 Expectorants Phase 2, Phase 3
42 HIV Protease Inhibitors Phase 2, Phase 3
43 Antidotes Phase 2, Phase 3
44 N-monoacetylcystine Phase 2, Phase 3
45 Dipeptidyl-Peptidase IV Inhibitors Phase 2, Phase 3
46 Incretins Phase 2, Phase 3
protease inhibitors Phase 2, Phase 3
48 Chelating Agents Phase 2, Phase 3
49 Vasodilator Agents Phase 2, Phase 3
50 Respiratory System Agents Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 74)
# Name Status NCT ID Phase Drugs
1 Effect of Desmopressin on Platelet Dysfunction Associated With Mild Hypothermia in Healthy Volunteers Unknown status NCT00902057 Phase 4 desmopressin;placebo
2 Study of Safety and Efficacy of Antihemophilic Factor/Von Willebrand Factor Complex (Humate-P®) Using Individualized Dosing in Pediatric and Adult Surgical Subjects With Von Willebrand's Disease. Completed NCT00168090 Phase 4 Blood coagulation Factor VIII and vWF, human
3 Impact of Genetic Variation in CES1 on Antiplatelet Therapy Recruiting NCT03161678 Phase 4 Clopidogrel;Ticagrelor
4 The Influence of Tramadol on Platelet Function Recruiting NCT05237492 Phase 4 Tramadol
5 Enrichment of CES1 Carriers in the Pharmacogenomics Anti-Platelet Intervention Study Enrolling by invitation NCT03188705 Phase 4 Clopidogrel;Aspirin
6 Does An Abnormal PFA 100 Predict Bleeding After Renal Biopsy? Terminated NCT00334204 Phase 4
7 Individualizing Dual Antiplatelet Therapy After Percutaneous Coronary Intervention - The IDEAL-PCI Extended Registry Withdrawn NCT02974777 Phase 4 DAPT reduction;DAPT on-target;DAPT intensification
8 The Effect of empagliFlozin on Platelet Function profilEs in diabetiC patienTs - The EFFECT Study. Unknown status NCT04342819 Phase 2, Phase 3 SGLT2 inhibitor
9 The Effect of Dapagliflozin on Platelet Function testinG Profiles in Diabetic PatiEnts: The EDGE Study. Unknown status NCT04400760 Phase 2, Phase 3 DAPA Tx
10 Treatment of Wolfram Syndrome Type 2 With the Chelator Deferiprone, and Incretin Based Therapy Unknown status NCT02882477 Phase 2, Phase 3 Deferiprone;Acetylcysteine;Sitagliptin and Metformin
11 Nitric Oxide Administration During Pediatric Cardiopulmonary Bypass Surgery to Prevent Platelet activation-a Single Center Pilot Study Completed NCT03455218 Phase 2, Phase 3 Nitric Oxide;Placebo
12 Cyproheptadine in Severe COVID-19 : A Unblinded Randomized Trial Not yet recruiting NCT04820751 Phase 3 Cyproheptadine Hydrochloride 4 MG
13 Reversal of Dual Antiplatelet Therapy With Cold Stored Platelets Unknown status NCT03787927 Phase 1, Phase 2 Autologous Platelet Transfusion (room-temperature-stored);Autologous Platelet Transfusion (cold-stored 5 days);Autologous Platelet Transfusion (cold-stored 10 days);Autologous Platelet Transfusion (cold-stored 15 days);Aspirin;Clopidogrel
14 Safety and Efficacy of Eltrombopag at Escalated Doses up to 150mg in Patients With Persistent and Chronic Immune Thrombocytopenia (ITP) Not Responsive to 75 mg Completed NCT01880047 Phase 2 Eltrombopag;Placebo
15 Eltrombopag for Inherited Thrombocytopenias Completed NCT02422394 Phase 2 Eltrombopag
16 Dose-Ranging Pharmacodynamic Assessment of Platelet Aggregation Inhibition With Clopidogrel in Children of Blalock-Taussig Shunt Age Categories (Neonates and Infants/Toddlers) Completed NCT00115375 Phase 2 Clopidogrel (SR25990)
17 An Exploratory Phase II Dose Escalation Study of Eltrombopag in MYH9 Related Disease Completed NCT01133860 Phase 2 eltrombopag
18 A Phase Ib/II, Open-label, Multi-center, Dose-finding Study to Assess the Safety and Efficacy of the Oral Combination of LDE225 and INC424 (Ruxolitinib) in Patients With Myelofibrosis Completed NCT01787552 Phase 1, Phase 2 LDE225;INC424
19 The Effects of loW Dose tIcagrelor on Platelet Function Testing in Patients With Stable Coronary arTery Disease: TWIST Trial Completed NCT04206176 Phase 1, Phase 2 Ticagrelor
20 Trimetazidine as an Adjunct to Enhance Clopidogrel Response: The TRACER Study. Completed NCT03603249 Phase 2 Trimetazidine
21 Prospective, Randomized, Single Center, Open Label Study Designed to Evaluate the Effect on Platelet Reactivity in Response to High Doses of Atorvastatin or Rosuvastatin Administered Before Percutaneous Coronary Intervention (PCI) Completed NCT01526460 Phase 2 Atorvastatin;Rosuvastatin;Placebo
22 Study on Avatrombopag for the Promotion of Platelet Engraftment After Allogeneic Hematopoietic Stem Cell Transplantation Recruiting NCT05143892 Phase 2 Avatrombopag
23 Pilot Study for Cyproheptadine in Hospitalized Patient for COVID-19: a Single-center, Observational Retrospective-prospective Comparative Study. Not yet recruiting NCT04876573 Phase 2 Cyproheptadine Hydrochloride 4 MG
24 Post-operative Administration of Platelet Rich Plasma Sequestered Prior to Cardiopulmonary Bypass Reduces the Coagulopathy Associated With Complex Cardiac Surgery Terminated NCT00359398 Phase 2
25 A Phase II Trial of Avatrombopag for the Treatment of Thrombocytopenia After Allogeneic Hematopoietic Stem Cell Transplant Withdrawn NCT04312789 Phase 2 Avatrombopag
26 The Impact of Various Storage Techniques on Platelet Function Withdrawn NCT03338660 Phase 2
27 Correlation Between Platelet Function Analyzer-100 Testing and Bleeding Events After Percutaneous Kidney Biopsy Unknown status NCT03762707
28 Relationship Between Level of Glycosylated Hemoglobin and Platelet Function in Patients Undergoing Coronary Artery Bypass Grafting Unknown status NCT02711124
29 The Effect of Cocoa on Platelet Function Profiles in Patients With Stable Coronary Artery Disease in Trinidad and Tobago: The ECLAIR Study Unknown status NCT04554901
30 Prevalence of Platelet Dysfunction Inblood With a Bleeding History Unknown status NCT03599219
31 Evaluation of Platelet Surface Glycoproteins in Patients With Inherited Thrombocytopathy: Association With Aggregation Studies and Bleeding Severity Unknown status NCT03648190
32 Comparison of the Effects of Gelatine (Gelofusine ® B. Braun) Versus Crystalloid Solution (Ringerfundin ® B. Braun) for Volume Therapy on Coagulation, Thrombocyte Function and Thrombelastometry (ROTEM ®), in Elective Hip Replacement Surgery Unknown status NCT02461329 Gelofusine® B. Braun;Ringerfundin ® B. Braun
33 A 1.5 Years Prospective Study Designed to Delineate the Cause of the Thrombocytopathy in Gaucher Disease Patients Unknown status NCT01344096
34 Hemostasis Profile in Patients With Severe Subarachnoid Hemorrhage Unknown status NCT03745456
35 Reversal of the Antiplatelet Effects of Ticagrelor in Combination With Aspirin, Using Normal Platelets Unknown status NCT03005704 Antiplatelet treatment
36 Acute Effect of Oleocanthal Rich Extra-virgin Olive Oil on Postpranial Hyperglycemia and Platelet Activation of T2DM Patients Unknown status NCT04419948
37 ECP Study: Extracorporeal Photopheresis as Treatment of Cardiac Allograft Vasculopathy After Heart Transplantation and Evaluation of Platelet Function and Aggregation After Heart Transplantation Unknown status NCT03583229 Aspirin 75mg
38 Influence of Cardiopulmonary Bypass on Platelet Function in Patients With Preoperative Dual Antiplatelet Therapy: Completed NCT02979158
39 Ex-Vivo Reversion of Platelet Inhibition Induced by Prasugrel Completed NCT01839968
40 AggreGuide 325 mg. Aspirin Study for Aspirin Induced Platelet Dysfunction Completed NCT01915407
41 Effects of Exercise Training on Cardiovascular Health in Middle-aged Women Completed NCT02135575
42 Use of Proteomics for the Diagnosis of a Platelet-related Bleeding Disorder Completed NCT02096523
43 Platelet Function in Minimal Extracorporeal Circulation Versus Conventional Extracorporeal Circulation in Coronary Artery Bypass Grafting Completed NCT01935245
44 Clinical Performance Evaluation of T-TAS 01 PL Chip Completed NCT03621020
45 Correction of Platelet Dysfunction Following Traumatic Brain Injury in Geriatric Patients Completed NCT03182946
46 Pivotal Study of the AggreGuide A-100 Adenosine Diphosphate (ADP) Assay to Evaluate the Detection of Platelet Dysfunction Due to P2Y12 Antiplatelet Drugs Completed NCT03111420 P2Y12 inhibitor
47 Treatment and Management of Women With Bleeding Disorders Completed NCT00111215 Tranexamic Acid;Desmopressin Acetate
48 Effect of Aspirin, in Vitro Hemodilution and Desmopressin on Platelet Dysfunction Associated With Mild Hypothermia in Healthy Volunteers Completed NCT01382134 Aspirin, desmopressin;Placebo, desmopressin
49 The Effect of Vitamin D Supplementation on HIV-associated Platelet Hyperreactivity Completed NCT02217553 Cholecalciferol
50 Platelet Enzymatically Oxidized Phospholipids (eoxPL) Characterisation in a Healthy Cohort on and Off Aspirin Completed NCT05604118 Aspirin

Search NIH Clinical Center for Blood Platelet Disease

Cochrane evidence based reviews: blood platelet disorders

Genetic Tests for Blood Platelet Disease

Anatomical Context for Blood Platelet Disease

Organs/tissues related to Blood Platelet Disease:

MalaCards : Bone Marrow, Lung, Bone, Heart, Brain, Kidney, Myeloid

Publications for Blood Platelet Disease

Articles related to Blood Platelet Disease:

(show top 50) (show all 3098)
# Title Authors PMID Year
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 62 5
31064749 2019
The Analysis of the Human Megakaryocyte and Platelet Coding Transcriptome in Healthy and Diseased Subjects. 62 41
35886993 2022
Diverse CD36 expression among Japanese population: defective CD36 mutations cause platelet and monocyte CD36 reductions in not only deficient but also normal phenotype subjects. 5
25798958 2015
Free fatty acid uptake in humans with CD36 deficiency. 5
24917573 2014
Variants of CD36 gene and their association with CD36 protein expression in platelets. 5
24960640 2014
A common haplotype at the CD36 locus is associated with high free fatty acid levels and increased cardiovascular risk in Caucasians. 5
15282206 2004
Identification of cryptic splice site, exon skipping, and novel point mutations in type I CD36 deficiency. 5
11950861 2002
Association of the Pro90Ser CD36 mutation with elevated free fatty acid concentrations but not with insulin resistance syndrome in Japanese. 5
11718687 2001
Phenotype-genotype correlation in CD36 deficiency types I and II. 5
11019968 2000
Human CD36 deficiency is associated with elevation in low-density lipoprotein-cholesterol. 5
10946357 2000
Molecular basis of CD36 deficiency. Evidence that a 478C-->T substitution (proline90-->serine) in CD36 cDNA accounts for CD36 deficiency. 5
7533783 1995
Platelet functional abnormalities and clinical presentation in pediatric patients with germline RUNX1, ANKRD26, and ETV6 mutations. 41
35796010 2022
Platelet abnormalities in patients with Parkinson's disease undergoing preoperative evaluation for deep brain stimulation. 41
36028530 2022
RUNX1/core binding factor A2 regulates platelet 12-lipoxygenase gene (ALOX12): studies in human RUNX1 haplodeficiency. 53 62
20181616 2010
A point-of-care assessment of the effects of desmopressin on impaired platelet function using multiple electrode whole-blood aggregometry in patients after cardiac surgery. 53 62
20042444 2010
Novel RUNX1 mutations in familial platelet disorder with enhanced risk for acute myeloid leukemia: clues for improved identification of the FPD/AML syndrome. 53 62
19946261 2010
Desmopressin improves platelet dysfunction measured by in vitro closure time in uremic patients. 53 62
20090366 2010
Mutations in MYH9 exons 1, 16, 26, and 30 are infrequently found in Japanese patients with nonsyndromic deafness. 53 62
19645626 2009
High frequency of RUNX1 biallelic alteration in acute myeloid leukemia secondary to familial platelet disorder. 53 62
19357396 2009
Proplatelet formation in heterozygous Bernard-Soulier syndrome type Bolzano. 53 62
19067792 2009
Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy. 53 62
18723428 2008
Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions. 53 62
18478040 2008
The effect of gestational age on platelet surface expression of CD62P in preterm newborns. 53 62
18432525 2008
Familial myelodysplasia and acute myeloid leukaemia--a review. 53 62
18173751 2008
A novel RUNX1 mutation in familial platelet disorder with propensity to develop myeloid malignancies. 53 62
18166807 2008
Comparison of early platelet activation in patients undergoing on-pump versus off-pump coronary artery bypass surgery. 53 62
17599498 2007
Risk of excessive bleeding associated with marginally low von Willebrand factor and mild platelet dysfunction. 53 62
17137472 2007
Disease mutations in RUNX1 and RUNX2 create nonfunctional, dominant-negative, or hypomorphic alleles. 53 62
17290219 2007
Use of recombinant activated factor VII to control bleeding in a young child with qualitative platelet disorder: a case report. 53 62
16651876 2006
Effect of aprotinin and recombinant variants on platelet protease-activated receptor 1 activation. 53 62
16427862 2006
AML1 deletion in adult mice causes splenomegaly and lymphomas. 53 62
16247465 2006
Perioperative management of a patient with May-Hegglin anomaly requiring craniotomy. 53 62
16044442 2005
Low Mpl receptor expression in a pedigree with familial platelet disorder with predisposition to acute myelogenous leukemia and a novel AML1 mutation. 53 62
15741216 2005
Structure and function of snake venom toxins interacting with human von Willebrand factor. 53 62
15922776 2005
Targeting platelet GPIbalpha transgene expression to human megakaryocytes and forming a complete complex with endogenous GPIbbeta and GPIX. 53 62
15550031 2004
Two clonal occurrences of tetrasomy 21 in an atypical chronic myeloid leukemia with wild-type RUNX1 alleles. Additional support for a gene dosage effect of chromosome 21 or RUNX1 in leukemia. 53 62
15339695 2004
Point mutations in the RUNX1/AML1 gene: another actor in RUNX leukemia. 53 62
15156185 2004
AML-1 is required for megakaryocytic maturation and lymphocytic differentiation, but not for maintenance of hematopoietic stem cells in adult hematopoiesis. 53 62
14966519 2004
Young male smokers have altered platelets and endothelium that precedes atherosclerosis. 53 62
15013360 2004
Lymphoid enhancer factor-1 links two hereditary leukemia syndromes through core-binding factor alpha regulation of ELA2. 53 62
14594802 2004
AML1/RUNX1 mutations are infrequent, but related to AML-M0, acquired trisomy 21, and leukemic transformation in pediatric hematologic malignancies. 53 62
12874780 2003
The role of a Runt domain transcription factor AML1/RUNX1 in leukemogenesis and its clinical implications. 53 62
12604126 2003
Implications of somatic mutations in the AML1 gene in radiation-associated and therapy-related myelodysplastic syndrome/acute myeloid leukemia. 53 62
12393679 2003
Core binding factor genes and human leukemia. 53 62
12495904 2002
Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene. 53 62
11935325 2002
Novel heterozygous missense mutation in the platelet glycoprotein Ib beta gene associated with isolated giant platelet disorder. 53 62
11754414 2001
A missense mutation (Tyr88 to Cys) in the platelet membrane glycoprotein Ibbeta gene affects GPIb/IX complex expression--Bernard-Soulier syndrome in the homozygous form and giant platelets in the heterozygous form. 53 62
11816714 2001
A novel CBFA2 single-nucleotide mutation in familial platelet disorder with propensity to develop myeloid malignancies. 53 62
11675361 2001
Hemostatic changes in patients receiving hydroxyethyl starch: the influence of ABO blood group. 53 62
11375811 2001
Expression of platelet P-selectin and detection of soluble P-selectin, NPY and RANTES in patients with inflammatory bowel disease. 53 62
11071121 2000

Variations for Blood Platelet Disease

ClinVar genetic disease variations for Blood Platelet Disease:

# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CD36 NM_001001548.3(CD36):c.268C>T (p.Pro90Ser) SNV Pathogenic
13535 rs75326924 GRCh37: 7:80286003-80286003
GRCh38: 7:80656687-80656687
2 ANKRD26 NM_014915.3(ANKRD26):c.-126T>C SNV Pathogenic
626941 rs1589393792 GRCh37: 10:27389381-27389381
GRCh38: 10:27100452-27100452
3 RUNX1 NM_001754.5(RUNX1):c.497G>A (p.Arg166Gln) SNV Pathogenic
417961 rs1060499616 GRCh37: 21:36252865-36252865
GRCh38: 21:34880568-34880568

Copy number variations for Blood Platelet Disease from CNVD:

# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 45936 10 75328946 75329067 Duplication PLAU Platelet disorder

Expression for Blood Platelet Disease

Search GEO for disease gene expression data for Blood Platelet Disease.

Pathways for Blood Platelet Disease

Pathways related to Blood Platelet Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
Show member pathways
Show member pathways
Show member pathways
4 11.92 VWF GP9 GP5 GP1BB GP1BA
5 11.83 THPO ITGA2B GP5 GP1BA CD36
Show member pathways
7 11.41 VWF ITGA2B GP9 GP5 GP1BB F2R
8 11.2 PF4 ITGA2B F3
Show member pathways
Show member pathways
10.56 F8 F10

GO Terms for Blood Platelet Disease

Cellular components related to Blood Platelet Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 10.41 CD36 F10 F3 F8 GP1BA GP5
2 plasma membrane GO:0005887 10.34 CD36 F2R F3 GP1BA GP1BB GP5
3 plasma membrane GO:0005886 10.34 CD36 F2R F3 GP1BA GP1BB GP5
4 external side of plasma membrane GO:0009897 10.06 SELP ITGA2B GP1BA F3 F10 CD36
5 platelet alpha granule lumen GO:0031093 9.76 VWF PF4 MMRN1 F8
6 platelet alpha granule membrane GO:0031092 9.43 SELP ITGA2B CD36
7 obsolete intrinsic component of external side of plasma membrane GO:0031233 9.32 F3 F10
8 glycoprotein Ib-IX-V complex GO:1990779 9.23 GP9 GP5 GP1BB GP1BA

Biological processes related to Blood Platelet Disease according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 10.32 VWF SELP MYH9 MMRN1 ITGA2B GP9
2 platelet activation GO:0030168 10.13 VWF PF4 GP1BB GP1BA F2R
3 release of sequestered calcium ion into cytosol GO:0051209 10.1 F2R GP1BA GP1BB GP5 GP9
4 megakaryocyte development GO:0035855 10.02 GP1BA GP1BB GP5 GP9 THPO
5 blood coagulation GO:0007596 10 CD36 F10 F2R F3 F8 GP1BA
6 positive regulation of platelet activation GO:0010572 9.96 SELP GP9 GP5 GP1BB GP1BA
7 regulation of blood coagulation GO:0030193 9.85 SERPINC1 GP1BA F2R
8 blood coagulation, intrinsic pathway GO:0007597 9.85 F8 GP1BA GP1BB GP5 GP9
9 thrombin-activated receptor signaling pathway GO:0070493 9.8 GP1BA F2R
10 regulation of body fluid levels GO:0050878 9.48 F8 F10
11 hemostasis GO:0007599 9.36 F10 F2R F3 F8 GP1BA GP1BB

Molecular functions related to Blood Platelet Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 thrombin-activated receptor activity GO:0015057 8.92 GP1BA F2R

Sources for Blood Platelet Disease

8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
27 GO
28 GTR
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
36 LifeMap
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
70 Tocris
72 UMLS via Orphanet
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